ALG8-CDG
From BugSigDB
A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
- Aliases
- ALG8-CDG
- ALG8-CDG (CDG-Ih)
- Carbohydrate deficient glycoprotein syndrome type Ih
- carbohydrate deficient glycoprotein syndrome type Ih
- CDG 1H
- CDG Ih
- CDG syndrome type Ih
- CDG-Ih
- CDG1H
- Congenital disorder of glycosylation type 1h
- congenital disorder of glycosylation type 1h
- Congenital disorder of glycosylation type Ih
- congenital disorder of glycosylation type Ih
- congenital disorder of glycosylation, type Ih
- Glucosyltransferase 2 deficiency
- glucosyltransferase 2 deficiency